Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

FRANCALACCI, Paolo

;Morelli L;Angius A;Berutti R;Reinier F;Atzeni R;Pilu R;Busonero F;Maschio A;Zara I;SANNA, Daria;Useli A;Urru MF;Marcelli M;CusanoR;OPPO, MANUELA;Zoledziewska M;Pitzalis M;Deidda F;Porcu E;Poddie F;Min Kang H;Lyons R;Tarrier B;Bragg Gresham J;Li B;Tofanelli S;Alonso S;Dei M;Lai S;Mulas A;Whalen MB;UZZAU, Sergio;Jones C;Schlessinger D;Abecasis GR;Sanna S;Sidore C;CUCCA, Francesco

2013-01-01

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Abstract

Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the origins of contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing of 1204 Sardinian males identified 11,763 MSY single-nucleotide polymorphisms, 6751 of which have not previously been observed. We constructed a MSY phylogenetic tree containing all main haplogroups found in Europe, along with many Sardinian-specific lineage clusters within each haplogroup. The tree was calibrated with archaeological data from the initial expansion of the Sardinian population ∼7700 years ago. The ages of nodes highlight different genetic strata in Sardinia and reveal the presumptive timing of coalescence with other human populations. We calculate a putative age for coalescence of ∼180,000 to 200,000 years ago, which is consistent with previous mitochondrial DNA-based estimates.